PERNICIOUS ANEMIA

Autoimmune disorder associated w/ Vitamin B12 deficiency

Organ specific: Stomach
Causes
Due to lack of INTRINSIC FACTOR needed for normal absorption of
Vit. 12
Chronic atrophic gastritis---IF is reduced / eliminated
(body makes antibodies that attack and destroy the parietal
cells)
Autoantibodies:
1. Anti-parietal cell Ab-90% of patients ; reacts w/ parietal cells
2. Anti-intrinsic Factor- occurs in serum, saliva, & gastric
juices;75% of patient
Two types of Anti-IF Antibodies
1. Blocking Ab-prevents binding to cobalamin complex & prevent
complex to bind w/ receptors of ileum
2. Binding Ab- binds both IF & its complexed Vit. 12
3.
Ab bind cells surface antigens & destroys parietal gastric cells that
secrete IF
Ab bind IF.therefore, IFcannot bind Vitamin B12
Lack of Vit B12---------------cause anemia (RBCs need vit. B12 for development
& proliferation
Other causes:

Malabsorption in the small intestine

diet lacking vitamin B12 both can lead to pernicious anemia
gastrectomy
H. pylori infection
Hereditary intrinsic factor deficiency (children are born with an
inherited disorder that prevents their bodies from making intrinsic
factor. This disorder is called congenital pernicious anemia.)

Characteristics
Risk groups

common in people of Northern European and African descent than

in other ethnic groups.(most prevalent among individuals of either Celtic (ie,
English, Irish, Scottish) or Scandinavian origin. In these groups, 10-20 cases per 100,000
people occur per year.)

Onset generally late adult life (>30y/o); peak stage 60 y/o

This is mainly due to a lack of stomach acid and intrinsic factor, which
prevents the small intestine from absorbing vitamin B12. As people
grow older, they tend to make less stomach acid

Patients often have maturely gray hair & light blue/ gray eyes
More common w/ blood group A

Symptoms and signs of pernicious anemia at presentation

1. Pallor and fatigue ----due to anemia
2. Loss of appetite and a sore, smooth, and red tongue ------due to atrophic
glossitis (Inflammation of the tongue)
3. Diarrhea ---due to malabsorption of vitamin B12 and intestinal changes
4. Peripheral numbness, muscle wasting, diminished tendon reflexes, loss of
perception to light touch and vibration, and spastic ataxia ------due to
peripheral neuropathy and subacute combined degeneration of the spinal
cord
Fatigue occurs because your body doesnt have enough red blood cells to
carry oxygen to its various parts.
A low red blood cell count also can cause shortness of breath, dizziness,
headache, coldness in your hands and feet, pale or yellowish skin, and chest
pain.
A lack of red blood cells also means that your heart has to work harder to
move oxygen-rich blood through your body. This can lead to irregular
heartbeats called arrhythmias (ah-RITH-me-ahs), heart murmur, an enlarged
heart, or even heart failure.

Signs and Symptoms of Vitamin B12 Deficiency

Vitamin B12 deficiency may lead to nerve damage. This can cause tingling
and numbness in your hands and feet, muscle weakness, and loss of
reflexes. You also may feel unsteady, lose your balance, and have trouble
walking. Vitamin B12 deficiency can cause weakened bones and may lead to
hip fractures.
Severe vitamin B12 deficiency can cause neurological problems, such as
confusion, dementia, depression, and memory loss.
Other symptoms of vitamin B12 deficiency involve the digestive tract. These
symptoms include nausea (feeling sick to your stomach) and vomiting,
heartburn, abdominal bloating and gas, constipation or diarrhea, loss of
appetite, and weight loss. An enlarged liver is another symptom.
A smooth, thick, red tongue also is a sign of vitamin B12 deficiency and
pernicious anemia.
Infants who have vitamin B12 deficiency may have poor reflexes or unusual
movements, such as face tremors. They may have trouble feeding due to
tongue and throat problems. They also may be irritable. If vitamin B12
deficiency isn't treated, these infants may have permanent growth problems.

Characteristics

Laboratory Diagnosis
lifelong vitamin B12 treatment and is associated with other
autoimmune endocrinopathies, particularly thyroid disease and
diabetes.
There is also a small, increased incidence of stomach cancer.
1. Hematology:
Megaloblastic anemia characterized by macrocytes, poikylocytes,
hypersegmented polymorphonuclear leukocytes, leukopenia, and
thrombocytopenia in a peripheral blood film and megaloblasts in a
bone marrow smear.
Low serum levels of vitamin B12 with normal folic acid levels.

Impaired urinary excretion of vitamin B12 due to its malabsorption

measured by Schilling test
2. Biochemistry:
Achlorhydria, low levels of serum pepsinogen I, and high levels of
serum gastrin
3. Serology: Parietal cell antibody, intrinsic factor antibodies
4. Histopathology on gastric biopsy:
Type A chronic atrophic gastritis affecting the fundus and body of the
stomach with sparing of the antrum